Three novel polymorphisms in the beta globin gene.

Nadkarni, A; Sakaguchi, T; Gorakshakar, A; Phanasgaonkar, S; Colah, R; Mohanty, D; Kiyama, R

Nadkarni, A; Sakaguchi, T; Gorakshakar, A; Phanasgaonkar, S; Colah, R; Mohanty, D; Kiyama, R.

Afiliación

Nadkarni A; Department of Hematogenetics, Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India.

Am J Hematol ; 80(2): 161-3, 2005 Oct.

Article en En | MEDLINE | ID: mdl-16184579

RESUMEN

We report on three novel polymorphisms in and around the beta globin gene. Two of them are intronic (IVS2) polymorphisms (IVS 2 nt 200-203 (-CTTT) and IVS2 82-83 (-AG)). The third is a novel G-->C substitution at nt +1707 related to the beta globin cap site. This +1707 G-->C polymorphism was detected in 23.5% of chromosomes among 140 samples from India. It seems to be a novel but common polymorphism among Indians. There was no linkage between these novel polymorphisms and any beta thalassemia mutation.

Asunto(s)

Globinas/genética; Polimorfismo Genético; Adulto; Secuencia de Bases; Análisis Mutacional de ADN; Salud de la Familia; Mutación del Sistema de Lectura; Humanos; Masculino; Datos de Secuencia Molecular; Mutación Puntual

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo Genético / Globinas Límite: Adult / Humans / Male Idioma: En Revista: Am J Hematol Año: 2005 Tipo del documento: Article País de afiliación: India Pais de publicación: Estados Unidos

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